Incidental Mutation 'IGL01413:Casc1'
ID 278452
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Casc1
Ensembl Gene ENSMUSG00000043541
Gene Name cancer susceptibility candidate 1
Synonyms A230084G12Rik, Las1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01413
Quality Score
Status
Chromosome 6
Chromosomal Location 145174834-145211005 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145175086 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 669 (M669K)
Ref Sequence ENSEMBL: ENSMUSP00000107357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032396] [ENSMUST00000060797] [ENSMUST00000111728] [ENSMUST00000135984] [ENSMUST00000204105]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032396
SMART Domains Protein: ENSMUSP00000032396
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 10 539 3.2e-265 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000060797
AA Change: M720K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062279
Gene: ENSMUSG00000043541
AA Change: M720K

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 5.5e-61 PFAM
Pfam:Casc1 241 469 3.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000111727
Predicted Effect probably damaging
Transcript: ENSMUST00000111728
AA Change: M669K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107357
Gene: ENSMUSG00000043541
AA Change: M669K

DomainStartEndE-ValueType
coiled coil region 1 45 N/A INTRINSIC
Pfam:Casc1 228 456 6.1e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132937
Predicted Effect probably benign
Transcript: ENSMUST00000132948
SMART Domains Protein: ENSMUSP00000120248
Gene: ENSMUSG00000030263

DomainStartEndE-ValueType
Pfam:MRVI1 8 504 3.7e-248 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135191
Predicted Effect probably benign
Transcript: ENSMUST00000135984
Predicted Effect probably benign
Transcript: ENSMUST00000204105
SMART Domains Protein: ENSMUSP00000144783
Gene: ENSMUSG00000043541

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
Pfam:Casc1_N 29 229 3.4e-57 PFAM
Pfam:Casc1 241 469 2.3e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice with disruptions of this gene display a higher incidence of lung tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,612,306 A1160V possibly damaging Het
Acaa2 A T 18: 74,805,944 probably benign Het
Adgrl1 T A 8: 83,929,857 I268N probably damaging Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ass1 A G 2: 31,476,922 Y11C probably damaging Het
Cd44 T C 2: 102,814,287 E448G probably damaging Het
Cdca2 A G 14: 67,677,894 S639P probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cmtr1 T C 17: 29,697,982 S618P probably benign Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Col4a4 C T 1: 82,471,248 G1207E unknown Het
Cthrc1 T A 15: 39,080,499 L58Q possibly damaging Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dlgap1 C A 17: 70,516,074 A18E probably benign Het
Dnah2 G A 11: 69,432,964 L3707F probably damaging Het
Duox1 A G 2: 122,320,710 N289D probably benign Het
Fbrsl1 T A 5: 110,378,248 E443D probably damaging Het
Fgfr1 T A 8: 25,562,223 C288* probably null Het
Gabbr1 A G 17: 37,062,706 N498S possibly damaging Het
Gja10 T C 4: 32,602,070 K105E probably damaging Het
Glra4 C T X: 136,762,744 R352H probably benign Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Gm19402 G T 10: 77,690,489 probably benign Het
Hadha T A 5: 30,141,027 M200L probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Huwe1 A T X: 151,882,680 Q1231L possibly damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Il1rl1 A T 1: 40,446,169 K260N possibly damaging Het
Lhx6 C A 2: 36,103,516 A57S probably benign Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Met T C 6: 17,558,896 probably benign Het
Mgam A G 6: 40,661,277 D387G probably damaging Het
Myo3a T C 2: 22,297,600 S287P probably benign Het
Nol8 T G 13: 49,659,952 N140K possibly damaging Het
Nrap C A 19: 56,389,391 A56S probably damaging Het
Nuggc A G 14: 65,638,581 T548A probably benign Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Olfr94 A T 17: 37,197,663 F102I possibly damaging Het
Pcdh11x A G X: 120,399,585 T242A probably benign Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Pdzph1 T C 17: 58,879,152 I1215V possibly damaging Het
Plekha8 C T 6: 54,622,276 T265I probably benign Het
Pou4f2 T A 8: 78,435,105 I290F probably damaging Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Rab28 A T 5: 41,698,447 D68E probably damaging Het
Rbl1 T C 2: 157,152,892 probably null Het
Samd4 A G 14: 47,016,792 T137A probably benign Het
Serpinb1b T G 13: 33,093,859 D358E probably damaging Het
Serpinb9c G A 13: 33,151,804 L222F probably damaging Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Spef2 T A 15: 9,676,290 I732L probably benign Het
Srrm2 T C 17: 23,816,025 probably benign Het
Ssx9 A G X: 8,749,453 E75G probably benign Het
Stmnd1 A T 13: 46,299,681 I278L probably benign Het
Strap C A 6: 137,745,504 probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Tcf4 A C 18: 69,655,019 E160D probably damaging Het
Themis3 A G 17: 66,556,097 Y289H probably benign Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trappc10 A G 10: 78,197,844 V963A possibly damaging Het
Trav19 G T 14: 53,845,615 C49F probably damaging Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Usp9x A G X: 13,151,340 S1696G probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Vmn1r185 A T 7: 26,611,621 V153E probably damaging Het
Vmn2r124 A G 17: 18,062,565 T174A probably benign Het
Wdr59 T A 8: 111,501,074 S124C probably benign Het
Xirp2 A T 2: 67,509,926 D837V probably damaging Het
Zfp185 A G X: 73,018,391 D403G possibly damaging Het
Zfp516 A T 18: 82,987,670 K900* probably null Het
Other mutations in Casc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Casc1 APN 6 145175290 missense probably benign 0.00
IGL00586:Casc1 APN 6 145191576 missense possibly damaging 0.53
IGL01066:Casc1 APN 6 145176222 missense probably damaging 0.96
IGL02275:Casc1 APN 6 145177364 missense probably damaging 1.00
IGL02668:Casc1 APN 6 145205257 missense unknown
IGL03018:Casc1 APN 6 145183305 missense probably damaging 1.00
IGL03233:Casc1 APN 6 145181885 missense probably damaging 1.00
R0011:Casc1 UTSW 6 145179055 missense probably damaging 1.00
R0011:Casc1 UTSW 6 145179055 missense probably damaging 1.00
R0180:Casc1 UTSW 6 145183218 critical splice donor site probably benign
R0786:Casc1 UTSW 6 145181757 critical splice donor site probably null
R1916:Casc1 UTSW 6 145176200 missense probably benign 0.37
R2117:Casc1 UTSW 6 145205241 critical splice donor site probably null
R2174:Casc1 UTSW 6 145175170 missense probably damaging 1.00
R2264:Casc1 UTSW 6 145208429 utr 5 prime probably benign
R4393:Casc1 UTSW 6 145194578 missense possibly damaging 0.49
R4467:Casc1 UTSW 6 145183218 critical splice donor site probably null
R4847:Casc1 UTSW 6 145175185 missense probably damaging 1.00
R5014:Casc1 UTSW 6 145183266 missense probably damaging 1.00
R5207:Casc1 UTSW 6 145179068 missense probably damaging 1.00
R5264:Casc1 UTSW 6 145181776 missense probably benign 0.02
R5359:Casc1 UTSW 6 145196892 missense probably damaging 1.00
R5499:Casc1 UTSW 6 145177431 missense probably damaging 1.00
R6211:Casc1 UTSW 6 145200491 missense probably damaging 1.00
R6579:Casc1 UTSW 6 145179018 missense probably benign 0.19
R6939:Casc1 UTSW 6 145175219 missense possibly damaging 0.46
R7108:Casc1 UTSW 6 145185865 nonsense probably null
R7131:Casc1 UTSW 6 145177406 missense probably null 0.97
R7810:Casc1 UTSW 6 145194586 missense probably benign 0.28
R8017:Casc1 UTSW 6 145194557 missense probably damaging 1.00
R8385:Casc1 UTSW 6 145175192 missense probably damaging 1.00
R8680:Casc1 UTSW 6 145181816 missense probably benign 0.13
R8720:Casc1 UTSW 6 145205257 missense unknown
R9118:Casc1 UTSW 6 145175174 missense probably damaging 1.00
R9118:Casc1 UTSW 6 145175245 missense probably damaging 1.00
R9172:Casc1 UTSW 6 145177449 missense probably benign
R9290:Casc1 UTSW 6 145202962 missense unknown
X0063:Casc1 UTSW 6 145175271 missense probably benign 0.13
Z1176:Casc1 UTSW 6 145205293 nonsense probably null
Posted On 2015-04-16